A68T (p.Ala68Thr) variant of SHANK1 (Q9Y566)
A68T (p.Ala68Thr) in SHANK1 (Q9Y566) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- rs150390491
- cosmic curated COSV53264
- ESP rs150390491
- ExAC rs150390491
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.03
- CADD 21.10
- PolyPhen-2 0.06
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available